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English
agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
medical condition
AGAMMAGLOBULINEMIA, MICROCEPHALY, AND SEVERE DERMATITIS
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012508
class of disease
0 references
subclass of
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012508
skin disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012508
genetic syndromic intellectual disability
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012508
immune deficiency with skin involvement
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012508
agammaglobulinemia
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012508
exact match
http://www.orpha.net/ORDO/Orphanet_83617
0 references
Identifiers
MeSH descriptor ID
C538055
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012508
GARD rare disease ID
10011
1 reference
stated in
Genetic and Rare Diseases Information Center
retrieved
1 April 2019
ICD-10-CM
Q87.0
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012508
Mondo ID
MONDO_0012508
0 references
OMIM ID
610483
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012508
Orphanet ID
83617
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012508
UMLS CUI
C1864848
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012508
C4302680
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
Sitelinks
Wikipedia
(1 entry)
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enwiki
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
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Wikiversity
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Wiktionary
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Multilingual sites
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